Resultados da pesquisa - Christine M. Armour

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  1. 1
    Transformer-based deep learning ensemble framework predicts autism spectrum disorder using health administrative and birth registry data

    Transformer-based deep learning ensemble framework predicts autism spectrum disorder using health administrative and birth registry data Por Kevin Dick, Emily Kaczmarek, Robin Ducharme, Alexa C. Bowie, Alysha L. J. Dingwall‐Harvey, Heather Howley, Steven Hawken, Mark Walker, Christine M. Armour

    Publicado em 2025
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  2. 2
    Primary care providers’ lived experiences of genetics in practice

    Primary care providers’ lived experiences of genetics in practice Por Brittany Harding, Colleen Webber, Lucia Rühland, Nancy Dalgarno, Christine M. Armour, Richard Birtwhistle, Glenn Brown, June C. Carroll, Michael P. Flavin, Susan P. Phillips, Jennifer MacKenzie

    Publicado em 2018
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  3. 3
    The value of diagnostic testing for parents of children with rare genetic diseases

    The value of diagnostic testing for parents of children with rare genetic diseases Por Deborah A. Marshall, Karen V. MacDonald, Sebastian Heidenreich, Taila Hartley, François Bernier, Meredith Gillespie, Brenda McInnes, A. Micheil Innes, Christine M. Armour, Kym M. Boycott

    Publicado em 2019
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  4. 4
    Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?

    Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype? Por Judith Allanson, Göran Annerén, Yoki Aoki, Christine M. Armour, Marie‐Louise Bondeson, Hélène Cavé, Karen W. Gripp, Bronwyn Kerr, Anna‐Maja Nyström, Katia Sol‐Church, Alain Verloès, Martin Zenker

    Publicado em 2011
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  5. 5
    Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

    Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada Por Christine M. Armour, Shelley Dougan, Jo‐Ann Brock, Radha Chari, Bernie N. Chodirker, Isabelle DeBie, Jane Evans, William T. Gibson, Elena Kolomietz, Tanya N. Nelson, Frédérique Tihy, Mary Ann Thomas, Dimitri J. Stavropoulos

    Publicado em 2018
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  6. 6
    Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

    Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit Por Hussein Daoud, Stephanie M. Luco, Rui Li, Eric Bareke, Chandree L. Beaulieu, Olga Jarinova, Nancy Carson, Sarah M. Nikkel, Gail E. Graham, Julie Richer, Christine M. Armour, Dennis E. Bulman, Pranesh Chakraborty, Michael T. Geraghty, Matthew A. Lines, Thierry Lacaze‐Masmonteil, Jacek Majewski, Kym M. Boycott, David A. Dyment

    Publicado em 2016
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  7. 7
    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists Por Kym M. Boycott, Taila Hartley, Shelin Adam, François Bernier, Karen Chong, Bridget A. Fernandez, Jan M. Friedman, Michael T. Geraghty, Stacey Hume, Bartha Maria Knoppers, Anne‐Marie Laberge, Jacek Majewski, Roberto Mendoza‐Londono, M. Stephen Meyn, Jacques L. Michaud, Tanya N. Nelson, Julie Richer, Bekim Sadiković, David Skidmore, Tracy Stockley, Sherry Taylor, Clara van Karnebeek, Ma’n H. Zawati, Julie Lauzon, Christine M. Armour

    Publicado em 2015
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  8. 8
    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

    Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Por Chelsea Lowther, Marsha Speevak, Christine M. Armour, Elaine Goh, Gail E. Graham, Chumei Li, Susan Zeesman, Małgorzata J.M. Nowaczyk, Lee‐Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H. Jung, Victoria Mok Siu, Manjulata Rajguru, Sharan Goobie, Mark A. Tarnopolsky, Chitra Prasad, Paul T. Dick, Asmaa S. Hussain, Margreet Walinga, Renske G. Reijenga, Matthew J. Gazzellone, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Dimitri J. Stavropoulos, M. Elizabeth McCready, Anne S. Bassett

    Publicado em 2016
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  9. 9
    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Por Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns

    Publicado em 2012
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  10. 10
    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

    Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study Por Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, Alberto Alcantud, Gautam Ambegaonkar, Christine M. Armour, Priyanka Bakhtiani, Diana Bârcă, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti‐Pierri, Marianna Bugiani, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, I.F.M. de Coo, Régis Coutant, Dana Craiu, Patricia Crock, Christian DeGoede, Korcan Demir, Alice Dica, Paul Dimitri, Anna Dolcetta‐Capuzzo, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Belinda George, Evelien Gevers, Annette Hackenberg, Zita Halász, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Marjo S. van der Knaap, Marieke M van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Amy Lawson‐Yuen, Jan Lebl, M Linder-Lucht, Cláudia Fernandes Lorea, Charles Marques Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Malíková, Edna E. Mancilla, Anne McGowan, Verónica Mericq, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Isabelle Oliver‐Petit, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Fabiano O. Poswar, Christina Reinauer, Klára Roženková, tuba seven menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Jet van der Spek, Milou A.M. Stals, Athanasia Stoupa, Gopinath M. Subramanian, Davide Tonduti, Serap Turan, Corstiaan A. den Uil, Joel A. Vanderniet, Adri van der Walt, Jean‐Louis Wémeau, Jolante Wierzba, Marie‐Claire Y. de Wit, Nicole I. Wolf, Michael Wurm, Federica Zibordi, Amnon Zung, Nitash Zwaveling‐Soonawala, W. Edward Visser

    Publicado em 2020
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  11. 11
    Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

    Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration Por Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, Carolina Medina‐Gómez, Rosalie Sterenborg, Hao Wang, Anna Dolcetta‐Capuzzo, Linda J. de Rooij, Alexander Teumer, Ayhan Abacı, Erica L T van den Akker, Gautam Ambegaonkar, Christine M. Armour, I. Bacos, Priyanka Bakhtiani, Diana Bârcă, Andrew J. Bauer, Sjoerd A.A. van den Berg, Amanda van den Berge, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti‐Pierri, Doris Brunner, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, Alexander Chesover, Peter Christian, Jet van der Spek, I.F.M. de Coo, R. Coutant, Dana Craiu, Patricia Crock, Christian de Goede, Korcan Demir, Cheyenne Dewey, Alice Dica, Paul Dimitri, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Evelien Gevers, Erin Greenup, Annette Hackenberg, Zita Halász, Bianka Heinrich, Anna Hurst, Tony Huynh, Amber Isaza, Anna Kłosowska, Marieke M van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Abhishek Kulkarni, Alexander Laemmle, Stephen LaFranchi, Amy Lawson‐Yuen, Jan Lebl, Selmar Leeuwenburgh, M Linder-Lucht, Amelia Martí, Cláudia Fernandes Lorea, Charles Marques Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Malíková, Edna E. Mancilla, Kenneth McCormick, Anne McGowan, Verónica Mericq, Felipe Monti Lora, Carla Moran, Katalin Eszter Müller, Lindsey Nicol, Isabelle Oliver‐Petit, Laura Paone, Praveen George Paul, Michel Polak, Francesco Porta, Fabiano de Oliveira Poswar, Christina Reinauer, Klára Roženková, Rowen Seckold, tuba seven menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Milou A.M. Stals, Merel T Stegenga, Athanasia Stoupa

    Publicado em 2025
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